Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Abnormalities of nitric oxide metabolism have been implicated in the pathogenesis of acute chest syndrome in subjects with sickle cell anemia. It is not known whether exhaled nitric oxide levels (FE(NO)) are abnormal in children with a history of the acute chest syndrome (ACS). We compared FE(NO), plasma nitric oxide metabolites (NO(x)), serum arginine and citrulline levels, and the number of AAT repeats in intron 20 of NOS I in subjects with sickle cell disease (SCD) and a history of at least one episode of ACS (ACS(+), n = 13), subjects with SCD and no prior history of ACS (ACS(-), n = 7), and healthy children (HC, n = 6). Mean +/- SD FE(NO) (ppb) was lower in ACS(+) than in ACS(-) and HC: (10.4 +/- 4.3 versus 23.4 +/- 6.1 p = 0.002] and 30.4 +/- 15.8 [p = 0.0001], respectively). Plasma NO(x) (microM) were similar in all three groups (37.3 +/- 19.4, 33.0 +/- 13.2, 44.7 +/- 7.8, respectively). Arginine and citrulline levels (microM) did not differ between ACS(+) and ACS(-) groups. Spirometric data revealed a mildly diminished FEV(1) and FVC in ACS(+) that was statistically different from HC but not ACS(-): (FEV(1) as % of predicted for ACS(+), ACS(-), and HC; 83 +/- 17 versus 87 +/- 16 versus 102 +/- 16, respectively, p < 0.05 between ACS(+) and HC). The level of FE(NO) was significantly associated with the sum of AAT repeats in intron 20 of NOS I gene alleles. The correlation coefficient (r) was 0.62 (p < 0.005). We conclude that FE(NO) levels are significantly reduced in subjects who have a history of ACS and that the FE(NO) levels are significantly correlated with the number of NOS I AAT repeats. FE(NO) is a sensitive marker and may be a predictor of ACS prone children.
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PMID:Low exhaled nitric oxide and a polymorphism in the NOS I gene is associated with acute chest syndrome. 1175 Nov 85

The effects of sickle cell disease (SCD) on right ventricular (RV) and pulmonary function in SCD patients with pulmonary hypertension is not well-known. The aim of this study was to investigate RV and pulmonary functions in patients suffering from SCD with or without pulmonary hypertension using color tissue Doppler imaging and spirometry. We evaluated 48 asymptomatic patients with SCD. All patients underwent echocardiography with tissue Doppler imaging and pulmonary function test. Patients were divided into two groups: Group 1 consisted of 27 patients (age, 18.1 +/- 7.1 years) with normal pulmonary artery pressure, and group 2 consisted of 21 patients (age, 21.4 +/- 7.4 years) with pulmonary hypertension. Both groups were compared with a sex- and age-matched control group including 24 normal healthy subjects (age, 19.8 +/- 9.2 years). Tricuspid lateral annular systolic (S (m)) and early diastolic velocity (E (m)) were higher in group 1 than group 2 and the control group (p < 0.05). Tricuspid lateral annular late diastolic velocities (A (m)), isovolumetric contraction time, and myocardial performance index (MPI) were higher and the E (m)/A (m) ratio was lower in group 2 than group 1 and the control group (p < 0.05). However, no differences were found in the tricuspid lateral annular E (m) deceleration time, ejection time, and isovolumetric relaxation time between group 1, group 2, and the control group. Tricuspid lateral annular S (m) and E (m) were similar in group 2 and the control group. Forced expiratory volume in 1 second (FEV(1)), forced vital capacity (FVC), and the diffusion capacity of the lung for carbon monoxide were decreased in both groups of patients compared to the control group (p < 0.05). However, there was no difference in respiratory rate, FEV(1)/FVC ratio, peak expiratory flow, and total lung capacity between group 1, group 2, and the control group. There were no differences in any indices of lung function between the two groups of patients. MPI is useful index to evaluate RV function in patients with SCD. RV diastolic function was disturbed in only SCD patients with pulmonary hypertension. On the other hand, the restrictive pattern of pulmonary function abnormalities had developed in both groups of patients.
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PMID:Right ventricular and pulmonary function in sickle cell disease patients with pulmonary hypertension. 1683 4

The impact of sickle cell anaemia (SCA) on respiratory function of children must be determined if their management is to be optimised. Pulmonary diffusing capacity (DL(CO)), corrected for haemoglobin (DL(COc)), therefore was assessed in 24 children with SCA and 24 ethnic matched controls, mean age 11 (range 7-16) years. To determine if any differences found correlated with other measures of lung function, spirometry was undertaken and lung volumes assessed. The SCA children compared to the controls had lower weight (p=0.01), body mass index (p=0.002), DL(CO) (p<0.0001), K(CO) (p=0.003), V(CSB) (p=0.01), FEV(1) (p<0.0001) and FVC (p<0.0001), but greater K(COc) (p=0.001). K(COc) results correlated significantly with PEF (r=-0.58, p=0.02), but not TLC(pleth) (p=0.36), FEV(1) (0.39) or FVC (p=0.36). In conclusion, when corrected for haemoglobin levels, the SCA children compared to controls of similar age had elevated gas transfer per unit lung volume results. Our results suggest this abnormality is independent of other lung function abnormalities.
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PMID:Lung gas transfer in children with sickle cell anaemia. 1751 4

Sickle cell disease (SCD) is associated with impaired growth and skeletal maturation. Decreased fat-free mass (FFM) and body fat (BF) have been reported in Nigerian children with SCD relative to healthy age- and gender-matched controls. Pulmonary abnormalities, including reduced forced vital capacity (FVC), forced expiratory volume in one second (FEV(1)) and total lung capacity (TLC), have also been described in children with SCD. Since undernutrition is common in sub-Saharan Africa, we were interested in knowing the relationship between pulmonary function and body composition in Nigerian children and young adults with SCD. Body composition was determined using bioelectrical impedance and pulmonary function was assessed by spirometry in Nigerian children and young adults aged 7-35 years (n = 102) as well as healthy age-and gender-matched controls (n = 104). Age-adjusted data revealed 19-26% lower FFM for male (P < 0.001) and female (P < 0.001) subjects with SCD relative to the controls. FVC, FEV(1) and PEF were also significantly reduced in male and female children and young adults with SCD compared to their control counterparts. For both male and female patients and controls, FVC, FEV(1) and PEF correlated positively with FFM (P < 0.001). PEF for the female subjects with SCD diverged progressively with increasing age relative to the controls and the rate of change was significantly lower (P < 0.001). We conclude that pulmonary function is reduced in Nigerian children and young adults with SCD compared to controls and that for both groups, pulmonary function is directly related to body composition. These findings underscore the need for early nutritional intervention for children with SCD.
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PMID:Pulmonary function correlates with body composition in Nigerian children and young adults with sickle cell disease. 1790 Oct 67

Recent studies have emphasized the presence of airway hyperreactivity (AHR) in children with sickle cell disease (SCD). However, various tests for the detection of AHR have yielded distinctly different results in these patients. This study identified AHR via a methacholine challenge test (MCT) in a group of children with SCD (31 patients; age range, 6-16 years). The results of pulmonary function tests (PFTs) in patients with SCD and age-matched controls (30 healthy children) were investigated and compared. A positive methacholine challenge result was noted in 25 patients (77.5%). We found that when compared with controls, the children with SCD had lower forced vital capacity (FVC) and forced expiratory volume in 1 sec (FEV(1)) and that both their forced expiratory flow at 25-75% of the FVC (FEF(25-75)) and their FEV(1)/FVC ratio were not statistically significantly different from those of the controls. The statistically significant differences remained after treatment with a bronchodilator agent, but the changes in the FVC, FEV(1), and FEF(25-75) in response to bronchodilator treatment did not differ with statistical significance between the two groups. There was a negative correlation between the number of ACS attacks and the percent predicted of the FEV(1) and the FEV(1)/FVC ratio. We found that the MCT reveals a high incidence of AHR in patients with SCD, regardless of whether those individuals have ACS.
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PMID:Airway hyperreactivity detected by methacholine challenge in children with sickle cell disease. 1796 Aug 21

Among adults with sickle cell disease (SCD), pulmonary complications are a leading cause of death. Yet, the natural history of lung function in adults with SCD is not well established. We conducted a retrospective cohort study of adults with SCD who had repeated pulmonary function tests performed over 20 years of age. Ninety-two adults were included in this cohort. Rate of decline in FEV(1) for men and women with SCD was 49 cc/year (compared with 20-26 cc/year in the general population). Further studies are needed to identify factors which impact the rate of lung function decline in adults with SCD.
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PMID:Longitudinal analysis of pulmonary function in adults with sickle cell disease. 1838 25

Lung disease is a major cause of morbidity in children with sickle cell disease (SCD). Asthma in children with SCD is associated with a twice greater rate of pain and acute chest syndrome (ACS) episodes when compared to children with SCD but without asthma. Provocation challenges with methacholine are used to diagnose asthma when spirometry is normal, bronchodilator reactivity is absent, or the clinical picture is ambiguous. There have been only limited descriptions of use of methacholine challenge in individuals with SCD. We conducted a retrospective cohort study of 21 children with SCD and recurrent respiratory tract symptoms who were challenged with methacholine to determine if airway hyper responsiveness (AHR) was present. Fourteen (67%) of the children had a positive challenge. Of the 14 patients, four were given a new diagnosis of asthma based on the presence of chronic chest symptoms and the newly determined AHR and started on inhaled corticosteroids (ICS). In each positive challenge, forced expiratory volume in one second (FEV(1)) was reversed to at least 90% of baseline 15 min after bronchodilator treatment. Oxygen saturation decreased in 93% of those with a positive challenge, but returned to baseline values 15 min after bronchodilator treatment. No patient developed a pain or ACS episode within at least 1 month after the challenge. Evaluation of AHR with methacholine challenge in patients with SCD appears to be well tolerated and may elucidate a cause of SCD morbidity.
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PMID:Methacholine challenge in children with sickle cell disease: a case series. 1867 Dec 75

Lung disease is a common cause of morbidity among children with sickle cell disease (SCD). Although cross-sectional studies of children with SCD describe abnormal pulmonary function, the pattern of lung function growth in these children compared to children in the general population is not known. To provide preliminary evidence that growth of lung function is attenuated in children with SCD, we conducted a retrospective cohort study of children with hemoglobin SS (HbSS) ages 6-19 years who received at least two spirometry assessments for clinical care. The growth of lung function in these cases was compared to age, gender, and race-specific children without SCD or respiratory complaints from the Harvard Six Cities Study (H6CS). Seventy-nine children with HbSS contributed 363 spirometry measurements (mean per child = 4.6, median = 4.0, range = 2-17) and 255 controls contributed 1,543 spirometry measurements (mean per child = 6.1, median = 6.0, range = 2-13). Longitudinal forced expiratory volume in 1 sec (FEV(1)) was lower for boys and girls with HbSS compared to children in the general population, P = 0.031 and P = 0.002, respectively. When compared to the H6CS cohort, girls with HbSS showed lower longitudinal forced vital capacity (FVC) (P < 0.001) and FEV(1)/FVC (0.038); there was no difference in FVC or FEV(1)/FVC between boys in the HbSS and H6CS cohort. We conclude that growth of lung function is reduced in children with HbSS compared to children in the general population. Gender may influence the risk of developing abnormal lung function and airway obstruction in children with HbSS.
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PMID:Growth of lung function in children with sickle cell anemia. 1897 7

Concerns about the morbidity and mortality associated with tricuspid regurgitant jet velocity (TRJV) elevation, which may indicate pulmonary hypertension (PHT), in adults with sickle cell disease (SCD) have prompted growing interest in screening the pediatric sickle cell population. The goals of our study were to estimate the prevalence of TRJV elevation and determine its relationship to pulmonary function in children and young adults with SCD at baseline. Seventy-eight subjects (10-24 years old) with SCD underwent prospective screening by Doppler echocardiogram (ECHO), complete lung function evaluation, and laboratory testing as part of standard care at steady state. Tricuspid regurgitation was quantifiable in 68/78 (87%) subjects and peak TRJV was > or =2.5 m/sec in 26/78 (33.3%) evaluated. The frequency of obstruction, restriction, or abnormal gas exchange found on lung function evaluation was not significantly different in subjects with and without TRJV elevation. However, significant inverse correlations were observed between TRJV and both % predicted forced vital capacity (FVC) (r = -0.29, P = 0.022) and oxygen saturation (r = -0.26, P = 0.036). When compared to subjects without TRJV elevation, subjects with TRJV elevation had significantly lower % predicted forced expiratory volume in 1 sec (FEV(1)) (78.9 +/- 14.4 vs. 86.6 +/- 13.0%, P = 0.023), FVC (82.8 +/- 14.1 vs. 90.7 +/- 12.9%, P = 0.017), and oxygen saturation (95.8 +/- 3.2 vs. 97.5 +/- 2.4%, P = 0.016). We found that the combination of low hemoglobin and low % predicted FVC best predicted TRJV elevation (chi(2) = 17.05, P = 0.001) in our cohort, correctly identifying 70% of cases and resulting in positive and negative predictive values of 60 and 74%, respectively. We conclude that in this young population with SCD, TRJV elevation that is not significantly associated with abnormal lung function is common at baseline.
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PMID:Tricuspid regurgitant jet velocity elevation and its relationship to lung function in pediatric sickle cell disease. 1920 56

Vitamin D deficiency is known to be common among patients with sickle cell anemia (SCA). Vitamin D levels were measured in 139 children (aged 7.9 to 15.1 years) to study its association with SCA morbidities; severe deficiency <10 ng/mL was present in 64.0% and only 2.2% were sufficient (>30 ng/mL). Vitamin D levels were associated with pulmonary function (forced expiratory volume in 1 second [FEV(1)]), but not associated with either rates of acute pain or acute chest syndrome episodes. Further studies are needed to be able to compare outcomes in those with deficiency to those with sufficiency, as well as to treating patients with SCA with vitamin D to better establish a possible link, if any, between vitamin D and SCA morbidity.
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PMID:Vitamin D deficiency and comorbidities in children with sickle cell anemia. 2247 2


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